Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 Biomarker GENOMICS_ENGLAND Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol. 23618875

2013
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 Biomarker GENOMICS_ENGLAND A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809

2000
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 Biomarker GENOMICS_ENGLAND

Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 Biomarker GENOMICS_ENGLAND Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol. 23618875

2013
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 Biomarker GENOMICS_ENGLAND A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809

2000
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.600 Biomarker GENOMICS_ENGLAND Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol. 23618875

2013
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.600 Biomarker GENOMICS_ENGLAND A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809

2000
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.300 Biomarker GENOMICS_ENGLAND Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. 25264603

2014